Canonical Allele Identifier: CA018700

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49803
• ClinVar RCV Id: RCV000043069
• dbSNP Id: rs137854384
• MyVariant Identifiers: chr16:g.2129365_2129366delinsC (hg19) ; chr16:g.2079364_2079365delinsC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079364_2079365delinsC , CM000678.2:g.2079364_2079365delinsC	GRCh38
NC_000016.9:g.2129365_2129366delinsC , CM000678.1:g.2129365_2129366delinsC	GRCh37
NC_000016.8:g.2069366_2069367delinsC	NCBI36
NG_005895.1:g.35059_35060delinsC , LRG_487:g.35059_35060delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1638_*1639delinsC	ENSP00000455997.2:n.*1638_*1639delinsC
ENST00000642206.2:c.3136_3137delinsC	ENSP00000495146.2:p.Gly1046GlnfsTer8
ENST00000642365.2:c.3217_3218delinsC	ENSP00000495459.2:p.Gly1073GlnfsTer8
ENST00000644417.2:c.*3669_*3670delinsC	ENSP00000493912.2:n.*3669_*3670delinsC
ENST00000646464.2:c.*4142_*4143delinsC	ENSP00000496610.2:n.*4142_*4143delinsC
ENST00000219476.9:c.3220_3221delinsC MANE Select	ENSP00000219476.3:p.Gly1074GlnfsTer8
ENST00000350773.9:c.3220_3221delinsC	ENSP00000344383.4:p.Gly1074GlnfsTer8
ENST00000401874.7:c.3088_3089delinsC	ENSP00000384468.2:p.Gly1030GlnfsTer8
ENST00000471143.6:c.448_449delinsC	ENSP00000458541.2:n.448_449delinsC
ENST00000568454.6:c.3121_3122delinsC	ENSP00000454487.1:p.Gly1041GlnfsTer8
ENST00000642365.1:c.1874_1875delinsC
ENST00000642561.1:c.3091_3092delinsC	ENSP00000495099.1:p.Gly1031GlnfsTer8
ENST00000642797.1:c.3091_3092delinsC	ENSP00000493846.1:p.Gly1031GlnfsTer8
ENST00000642936.1:c.3088_3089delinsC	ENSP00000494514.1:p.Gly1030GlnfsTer8
ENST00000643088.1:c.3088_3089delinsC	ENSP00000494747.1:p.Gly1030GlnfsTer8
ENST00000643946.1:c.3220_3221delinsC	ENSP00000495927.1:p.Gly1074GlnfsTer8
ENST00000644043.1:c.3091_3092delinsC	ENSP00000496262.1:p.Gly1031GlnfsTer8
ENST00000644329.1:c.3088_3089delinsC	ENSP00000496611.1:p.Gly1030GlnfsTer8
ENST00000644335.1:c.3091_3092delinsC	ENSP00000496317.1:p.Gly1031GlnfsTer8
ENST00000644399.1:c.3210_3211delinsC
ENST00000644722.1:n.366_367delinsC
ENST00000645024.1:n.1373_1374delinsC
ENST00000646388.1:c.3220_3221delinsC	ENSP00000495921.1:p.Gly1074GlnfsTer8
ENST00000646634.1:n.2104_2105delinsC
ENST00000647042.1:n.512_513delinsC
ENST00000219476.7:c.3220_3221delinsC	ENSP00000219476.3:p.Gly1074GlnfsTer8
ENST00000350773.8:c.3220_3221delinsC	ENSP00000344383.4:p.Gly1074GlnfsTer8
ENST00000382538.10:c.2944_2945delinsC	ENSP00000371978.6:p.Gly982GlnfsTer8
ENST00000401874.6:c.3088_3089delinsC	ENSP00000384468.2:p.Gly1030GlnfsTer8
ENST00000439117.6:c.*2387_*2388delinsC	ENSP00000406980.2:n.*2387_*2388delinsC
ENST00000439673.6:c.2980_2981delinsC	ENSP00000399232.2:p.Gly994GlnfsTer8
ENST00000471143.5:c.446_447delinsC
ENST00000483020.5:c.460_461delinsC	ENSP00000460310.1:n.460_461delinsC
ENST00000497886.5:n.1047_1048delinsC
ENST00000561695.1:n.445_446delinsC
ENST00000568366.5:n.577_578delinsC
ENST00000568454.5:c.3121_3122delinsC	ENSP00000454487.1:p.Gly1041GlnfsTer8
NM_000548.3:c.3220_3221delinsC , LRG_487t1:c.3220_3221delinsC	NP_000539.2:p.Gly1074GlnfsTer8
NM_001077183.1:c.3088_3089delinsC	NP_001070651.1:p.Gly1030GlnfsTer8
NM_001114382.1:c.3220_3221delinsC	NP_001107854.1:p.Gly1074GlnfsTer8
XM_005255529.3:c.3091_3092delinsC	XP_005255586.2:p.Gly1031GlnfsTer8
XM_005255531.3:c.3091_3092delinsC	XP_005255588.2:p.Gly1031GlnfsTer8
XM_011522636.1:c.3220_3221delinsC	XP_011520938.1:p.Gly1074GlnfsTer8
XM_011522637.1:c.3217_3218delinsC	XP_011520939.1:p.Gly1073GlnfsTer8
XM_011522638.1:c.3109_3110delinsC	XP_011520940.1:p.Gly1037GlnfsTer8
XM_011522639.1:c.3091_3092delinsC	XP_011520941.1:p.Gly1031GlnfsTer8
XM_011522640.1:c.3088_3089delinsC	XP_011520942.1:p.Gly1030GlnfsTer8
XM_011522641.1:c.2980_2981delinsC	XP_011520943.1:p.Gly994GlnfsTer8
NM_000548.4:c.3220_3221delinsC	NP_000539.2:p.Gly1074GlnfsTer8
NM_001077183.2:c.3088_3089delinsC	NP_001070651.1:p.Gly1030GlnfsTer8
NM_001114382.2:c.3220_3221delinsC	NP_001107854.1:p.Gly1074GlnfsTer8
NM_001318827.1:c.2980_2981delinsC	NP_001305756.1:p.Gly994GlnfsTer8
NM_001318829.1:c.2944_2945delinsC	NP_001305758.1:p.Gly982GlnfsTer8
NM_001318831.1:c.2488_2489delinsC	NP_001305760.1:p.Gly830GlnfsTer8
NM_001318832.1:c.3121_3122delinsC	NP_001305761.1:p.Gly1041GlnfsTer8
NM_001363528.1:c.3091_3092delinsC	NP_001350457.1:p.Gly1031GlnfsTer8
NM_021055.2:c.3091_3092delinsC	NP_066399.2:p.Gly1031GlnfsTer8
XM_005255531.4:c.3091_3092delinsC	XP_005255588.2:p.Gly1031GlnfsTer8
XM_011522636.2:c.3220_3221delinsC	XP_011520938.1:p.Gly1074GlnfsTer8
XM_011522637.2:c.3217_3218delinsC	XP_011520939.1:p.Gly1073GlnfsTer8
XM_011522638.2:c.3382_3383delinsC	XP_011520940.2:p.Gly1128GlnfsTer8
XM_011522639.2:c.3091_3092delinsC	XP_011520941.1:p.Gly1031GlnfsTer8
XM_011522640.2:c.3088_3089delinsC	XP_011520942.1:p.Gly1030GlnfsTer8
XM_017023615.1:c.3217_3218delinsC	XP_016879104.1:p.Gly1073GlnfsTer8
XM_017023616.1:c.3088_3089delinsC	XP_016879105.1:p.Gly1030GlnfsTer8
XM_017023617.1:c.3253_3254delinsC	XP_016879106.1:p.Gly1085GlnfsTer8
XM_017023618.1:c.1876_1877delinsC	XP_016879107.1:p.Gly626GlnfsTer8
XM_024450413.1:c.3088_3089delinsC	XP_024306181.1:p.Gly1030GlnfsTer8
NM_000548.5:c.3220_3221delinsC MANE Select	NP_000539.2:p.Gly1074GlnfsTer8
NM_001370404.1:c.3088_3089delinsC	NP_001357333.1:p.Gly1030GlnfsTer8
NM_001370405.1:c.3091_3092delinsC	NP_001357334.1:p.Gly1031GlnfsTer8
NM_001077183.3:c.3088_3089delinsC	NP_001070651.1:p.Gly1030GlnfsTer8
NM_001114382.3:c.3220_3221delinsC	NP_001107854.1:p.Gly1074GlnfsTer8
NM_001318827.2:c.2980_2981delinsC	NP_001305756.1:p.Gly994GlnfsTer8
NM_001318829.2:c.2944_2945delinsC	NP_001305758.1:p.Gly982GlnfsTer8
NM_001318831.2:c.2488_2489delinsC	NP_001305760.1:p.Gly830GlnfsTer8
NM_001318832.2:c.3121_3122delinsC	NP_001305761.1:p.Gly1041GlnfsTer8
NM_001363528.2:c.3091_3092delinsC	NP_001350457.1:p.Gly1031GlnfsTer8
NM_021055.3:c.3091_3092delinsC	NP_066399.2:p.Gly1031GlnfsTer8